Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Genetics"
DOI: 10.1111/cge.14290
Abstract: Protein translation is an essential cellular process and dysfunctional protein translation causes various neurodevelopmental disorders. The eukaryotic translation elongation factor 1A (eEF1A) delivers aminoacyl‐tRNA to the ribosome, while the eEF1B complex acts as a guanine… read more here.
Keywords: neurodevelopmental disorders; domain; eef1d; guanine exchange ... See more keywords